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C. Netzer · SciRah

Researcher profile · Semantic Scholar

C. Netzer

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C. Netzer — researcher profile on SciRah

h-index: 29
Works: 70
Citations: 3,462

Most-cited papers

Exome sequencing identifies truncating mutations in human SERPINF1 in autosomal-recessive osteogenesis imperfecta.
J. Becker, O. Semler, C. Gilissen, Yun Li +13 more
2011American Journal of Human Genetics351 citations Open access
Semantic Scholar
Mutations in WNT1 cause different forms of bone fragility.
Katharina Keupp, Filippo Beleggia, H. Kayserili, Aileen M. Barnes +32 more
2013American Journal of Human Genetics276 citations Open access
Semantic Scholar
A mutation in the 5'-UTR of IFITM5 creates an in-frame start codon and causes autosomal-dominant osteogenesis imperfecta type V with hyperplastic callus.
O. Semler, L. Garbes, Katharina Keupp, Daniel Swan +10 more
2012American Journal of Human Genetics233 citations Open access
Semantic Scholar
Attenuated BMP1 function compromises osteogenesis, leading to bone fragility in humans and zebrafish.
P. Asharani, Katharina Keupp, O. Semler, Wen-Shen Wang +18 more
2012American Journal of Human Genetics209 citations Open access
Semantic Scholar
Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X‐Linked Kabuki Syndrome Subtype 2
N. Bögershausen, V. Gatinois, V. Riehmer, H. Kayserili +37 more
2016Human Mutation179 citations Open access
Semantic Scholar
LRP4 mutations alter Wnt/beta-catenin signaling and cause limb and kidney malformations in Cenani-Lenz syndrome.
Yun Li, B. Pawlik, N. Elcioglu, M. Aglan +22 more
2010American Journal of Human Genetics178 citations Open access
Semantic Scholar
Mutations in SEC24D, encoding a component of the COPII machinery, cause a syndromic form of osteogenesis imperfecta.
L. Garbes, Kyungho Kim, A. Riess, H. Hoyer-Kuhn +17 more
2015American Journal of Human Genetics169 citations Open access
Semantic Scholar
The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome
P. J. van der Sluijs, S. Jansen, S. Vergano, Miho Adachi-Fukuda +101 more
2018Genetics in Medicine125 citations Open access
Semantic Scholar
Safety and efficacy of denosumab in children with osteogenesis imperfecta - a first prospective trial
H. Hoyer-Kuhn, J. Franklin, G. Allo, M. Kron +5 more
2016Journal of musculoskeletal & neuronal interactions125 citations
Semantic Scholar
First use of the RANKL antibody denosumab in osteogenesis imperfecta type VI.
O. Semler, C. Netzer, H. Hoyer-Kuhn, J. Becker +2 more
2012Journal of musculoskeletal & neuronal interactions119 citations
Semantic Scholar
Two years’ experience with denosumab for children with Osteogenesis imperfecta type VI
H. Hoyer-Kuhn, C. Netzer, F. Koerber, E. Schoenau +1 more
2014Orphanet Journal of Rare Diseases117 citations Open access
Semantic Scholar
Novel CCM1, CCM2, and CCM3 mutations in patients with cerebral cavernous malformations: in‐frame deletion in CCM2 prevents formation of a CCM1/CCM2/CCM3 protein complex
Sonja Stahl, S. Gaetzner, K. Voss, Bettina Brackertz +13 more
2008Human Mutation111 citations Open access
Semantic Scholar
SALL1, the gene mutated in Townes-Brocks syndrome, encodes a transcriptional repressor which interacts with TRF1/PIN2 and localizes to pericentromeric heterochromatin.
C. Netzer, L. Rieger, Alessandro Brero, Chang-Dong Zhang +3 more
2001Human Molecular Genetics103 citations
Semantic Scholar
New genetic evidence for involvement of the dopamine system in migraine with aura
U. Todt, C. Netzer, M. Toliat, A. Heinze +5 more
2009Human Genetics76 citations
Semantic Scholar
Identification of novel mutations in X-linked retinitis pigmentosa families and implications for diagnostic testing
J. Neidhardt, E. Glaus, B. Lorenz, C. Netzer +21 more
2008Molecular Vision71 citations
Semantic Scholar
Osteogenesis imperfecta—pathophysiology and therapeutic options
J. Etich, Lennart Lessmeier, Mirko Rehberg, H. Sill +3 more
2020Molecular and Cellular Pediatrics68 citations Open access
Semantic Scholar
De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction.
Nadja Ehmke, L. Graul-Neumann, Lukasz Smorag, R. Koenig +28 more
2017American Journal of Human Genetics61 citations Open access
Semantic Scholar
An offer you can't refuse? Ethical implications of non-invasive prenatal diagnosis
Dagmar Schmitz, C. Netzer, W. Henn
2009Nature reviews genetics61 citations
Semantic Scholar
Novel mutations affecting LRP5 splicing in patients with osteoporosis-pseudoglioma syndrome (OPPG)
Christine Laine, B. Chung, Miki Susic, T. Prescott +9 more
2011European Journal of Human Genetics60 citations Open access
Semantic Scholar
Pharmacogenetic testing, informed consent and the problem of secondary information.
C. Netzer, N. Biller-Andorno
2004Bioethics60 citations
Semantic Scholar
Interaction between KDELR2 and HSP47 as a Key Determinant in Osteogenesis Imperfecta Caused by Bi-allelic Variants in KDELR2.
F. V. van Dijk, O. Semler, J. Etich, Anna Köhler +34 more
2020American Journal of Human Genetics55 citations Open access
Semantic Scholar
Autosomal Recessive Mutations in MESD Cause Osteogenesis Imperfecta.
Shahida Moosa, G. Yamamoto, L. Garbes, Katharina Keupp +29 more
2019American Journal of Human Genetics53 citations Open access
Semantic Scholar
MTHFR C677T polymorphism and migraine with aura
U. Todt, J. Freudenberg, I. Goebel, C. Netzer +4 more
2006Annals of Neurology51 citations
Semantic Scholar
The Discovery of a LEMD2-Associated Nuclear Envelopathy with Early Progeroid Appearance Suggests Advanced Applications for AI-Driven Facial Phenotyping.
F. Marbach, C. Rustad, A. Riess, Dejan Đukić +17 more
2019American Journal of Human Genetics46 citations Open access
Semantic Scholar
The phenotypic spectrum of duplication 5q35.2–q35.3 encompassing NSD1: Is it really a reversed sotos syndrome?
N. Dikow, Bianca Maas, H. Gaspar, M. Kreiss-Nachtsheim +12 more
2013American Journal of Medical Genetics. Part A44 citations
Semantic Scholar
Osteogenesis imperfecta: pathophysiology and treatment
H. Hoyer-Kuhn, C. Netzer, O. Semler
2015Wiener Medizinische Wochenschrift36 citations
Semantic Scholar
A Nonclassical IFITM5 Mutation Located in the Coding Region Causes Severe Osteogenesis Imperfecta With Prenatal Onset
H. Hoyer-Kuhn, O. Semler, L. Garbes, Katharina Zimmermann +4 more
2014Journal of Bone and Mineral Research36 citations Open access
Semantic Scholar
A mutation in the signal sequence of LRP5 in a family with an osteoporosis‐pseudoglioma syndrome (OPPG)‐like phenotype indicates a novel disease mechanism for trinucleotide repeats
B. Chung, H. Kayserili, Minrong Ai, J. Freudenberg +12 more
2009Human Mutation33 citations
Semantic Scholar
Mutations in SEC24D cause autosomal recessive osteogenesis imperfecta
Shahida Moosa, B. Chung, Yuet-ling Tung, J. Altmuller +5 more
2015Clinical Genetics30 citations
Semantic Scholar
Defining the heterochromatin localization and repression domains of SALL1.
C. Netzer, S. Bohlander, Markus Hinzke, Ying Chen +1 more
2006Biochimica et Biophysica Acta29 citations Open access
Semantic Scholar
Individualized treatment with denosumab in children with osteogenesis imperfecta – follow up of a trial cohort
H. Hoyer-Kuhn, Mirko Rehberg, C. Netzer, E. Schoenau +1 more
2019Orphanet Journal of Rare Diseases28 citations Open access
Semantic Scholar
Haplotype‐based systematic association studies of ATP1A2 in migraine with aura
C. Netzer, U. Todt, A. Heinze, J. Freudenberg +6 more
2006American Journal of Medical Genetics Part B: Neuropsychiatric Genetics28 citations
Semantic Scholar
Analysis of Compound Synergy in High-Throughput Cellular Screens by Population-Based Lifetime Modeling
M. Peifer, J. Weiss, M. Sos, Mirjam Koker +7 more
2010PLoS ONE26 citations Open access
Semantic Scholar
Genetic association studies of the chromosome 15 GABA‐A receptor cluster in migraine with aura
C. Netzer, J. Freudenberg, M. Toliat, A. Heinze +8 more
2008American Journal of Medical Genetics Part B: Neuropsychiatric Genetics26 citations
Semantic Scholar
Replication study of the insulin receptor gene in migraine with aura.
C. Netzer, J. Freudenberg, A. Heinze, K. Heinze-Kuhn +6 more
2008Genomics24 citations Open access
Semantic Scholar
Interaction of the developmental regulator SALL1 with UBE2I and SUMO-1.
C. Netzer, S. Bohlander, L. Rieger, Stefan Müller +1 more
2002Biochemical and Biophysical Research Communications - BBRC24 citations
Semantic Scholar
O’Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrum
C. Velmans, A. O'Donnell-Luria, E. Argilli, Frederic Tran Mau-them +35 more
2021Journal of Medical Genetics20 citations Open access
Semantic Scholar
Novel KRIT1 Mutation and No Molecular Evidence of Anticipation in a Family with Cerebral and Spinal Cavernous Malformations
J. Kuhn, T. Brümmendorf, U. Brassat, F. Lehnhardt +6 more
2008European Neurology15 citations
Semantic Scholar
A heritable microduplication encompassing TBL1XR1 causes a genomic sister‐disorder for the 3q26.32 microdeletion syndrome
V. Riehmer, F. Erger, P. Herkenrath, S. Seland +5 more
2017American Journal of Medical Genetics. Part A14 citations
Semantic Scholar
Commentary: No risk, no objections? Ethical pitfalls of cell-free fetal DNA and RNA testing
Dagmar Schmitz, W. Henn, C. Netzer
2009British medical journal14 citations
Semantic Scholar
Uniparental isodisomy as a cause of recessive Mendelian disease: a diagnostic pitfall with a quick and easy solution in medium/large NGS analyses
F. Erger, K. Burau, M. Elsässer, Katharina Zimmermann +2 more
2018European Journal of Human Genetics12 citations Open access
Semantic Scholar
To know or not to know the genomic sequence of a fetus
C. Netzer, Dagmar Schmitz, W. Henn
2012Nature reviews genetics12 citations
Semantic Scholar
De Novo Mutations in SLC 25 A 24 Cause a Craniosynostosis Syndrome with Hypertrichosis , Progeroid Appearance , and Mitochondrial Dysfunction
Nadja Ehmke, L. Graul-Neumann, Lukasz Smorag, Lara Segebrecht +19 more
12 citations
Semantic Scholar
Global brain dysmyelination with above‐average verbal skills in 18q − syndrome with a 17 Mb terminal deletion
C. Netzer, C. Helmstaedter, A. Ehrbrecht, H. Engels +5 more
2006Acta Neurologica Scandinavica10 citations Open access
Semantic Scholar
Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome
P. J. van der Sluijs, S. Jansen, S. Vergano, Miho Adachi-Fukuda +101 more
2019Genetics in Medicine9 citations Open access
Semantic Scholar
P196: GestaltMatcher Database: A FAIR database for medical imaging data of rare diseases
H. Lesmann, Shahida Moosa, Tori Pantel, S. Rosnev +30 more
2023Genetics in Medicine Open6 citations Open access
Semantic Scholar
Which genes to assess in the NGS diagnostics of intellectual disability? The case for a consensus database-driven and expert-curated approach.
F. Erger, C. Schaaf, C. Netzer
2019Molecular and Cellular Probes6 citations
Semantic Scholar
TAPT1—at the crossroads of extracellular matrix and signaling in Osteogenesis imperfecta
J. Etich, O. Semler, N. Stevenson, A. Stephan +12 more
2023EMBO Molecular Medicine5 citations Open access
Semantic Scholar
Normal intelligence and premature ovarian failure in an adult female with a 7.6 Mb de novo terminal deletion of chromosome 9p.
I. Bartels, Irene Pütz, N. Reintjes, C. Netzer +1 more
2013European Journal of Medical Genetics4 citations
Semantic Scholar
Reply: Non-invasive prenatal diagnosis: an ethical imperative
Dagmar Schmitz, C. Netzer, W. Henn
2009Nature reviews genetics4 citations
Semantic Scholar

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